| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99642105C>T | CA16041238 | VPS13B | c.5590C>T (p.Gln1864Ter) n.5660C>T c.*1272C>T (n.*1272C>T) c.5515C>T (p.Gln1839Ter) c.5587C>T (p.Gln1863Ter) c.5512C>T (p.Gln1838Ter) c.5212C>T (p.Gln1738Ter) c.2476C>T (p.Gln826Ter) c.1369C>T (p.Gln457Ter) c.5395C>T (p.Gln1799Ter) c.1147C>T (p.Gln383Ter) c.4375C>T (p.Gln1459Ter) n.5551C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99642105C= | CA1805821246 | VPS13B | c.5590C= (p.Gln1864=) n.5660C= c.*1272C= (n.*1272C=) c.5515C= (p.Gln1839=) c.5587C= (p.Gln1863=) c.5512C= (p.Gln1838=) c.5212C= (p.Gln1738=) c.2476C= (p.Gln826=) c.1369C= (p.Gln457=) c.5395C= (p.Gln1799=) c.1147C= (p.Gln383=) c.4375C= (p.Gln1459=) n.5551C= | dbSNP |